{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:19:38Z","timestamp":1747181978603,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T00:00:00Z","timestamp":1658880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100015539","name":"Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015539","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is a rare condition characterized by hypopigmentation. A female proband and her sister, both with primary amelanotic\/hypopigmented melanoma, underwent three\u2010dimensional total\u2010body photography and dermoscopy. Both sisters had exome sequencing along with their brother, who had OCA but no history of melanoma. Imaging analysis was consistent with OCA in terms of individual typology angle scores, degree of sun damage, and high naevus counts. Exome data filtered for variants in known OCA and melanoma\/naevi susceptibility genes (<jats:italic>n<\/jats:italic>\u00a0=\u00a098) found all siblings were compound heterozygous for <jats:italic>TYR<\/jats:italic> mutations (Arg402Ter and Val275Phe), previously reported as causative OCA variants. A rare missense variant in <jats:italic>PARP1<\/jats:italic> (p.Pro377Ser) was solely present in the melanoma\u2010unaffected brother, which is noteworthy as this was previously reported as potentially protective in a familial melanoma pedigree positive for <jats:italic>CDKN2A<\/jats:italic> mutations. Evaluation and confirmation of functional impact in larger cohorts could personalize melanoma screening in OCA.<\/jats:p>","DOI":"10.1111\/1346-8138.16528","type":"journal-article","created":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T14:12:12Z","timestamp":1658931132000},"page":"1183-1187","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Amelanotic\/hypopigmented melanoma in a sibship with oculocutaneous albinism"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1035-7279","authenticated-orcid":false,"given":"Ellie J.","family":"Maas","sequence":"first","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6529-7528","authenticated-orcid":false,"given":"Courtney K.","family":"Wallingford","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"},{"name":"Department of Dermatology Princess Alexandra Hospital  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica J.","family":"McGuire","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7145-4673","authenticated-orcid":false,"given":"Chantal","family":"Rutjes","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3288-3659","authenticated-orcid":false,"given":"Darren J.","family":"Smit","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3876-501X","authenticated-orcid":false,"given":"Brigid","family":"Betz\u2010Stablein","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1301-0294","authenticated-orcid":false,"given":"Richard A.","family":"Sturm","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4770-561X","authenticated-orcid":false,"given":"H. Peter","family":"Soyer","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"},{"name":"Department of Dermatology Princess Alexandra Hospital  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0059-5732","authenticated-orcid":false,"given":"Aideen M.","family":"McInerney\u2010Leo","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12688"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403\u2010022\u201002335\u20101"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.12777"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0238529"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12529"},{"key":"e_1_2_10_7_1","first-page":"210","article-title":"Update in genetic susceptibility in melanoma","volume":"3","author":"Aguilera P","year":"2015","journal-title":"Ann Transl Med"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.09.128"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03540420035026"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12651"},{"key":"e_1_2_10_11_1","first-page":"328","article-title":"PARP\u20101 and PARP\u20102: new players in tumour development","volume":"1","author":"Yelamos J","year":"2011","journal-title":"Am J Cancer Res"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.29280"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16275"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.27357"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ski2.27"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.16528","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.16528","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.16528","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T22:00:33Z","timestamp":1692655233000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.16528"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,27]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1111\/1346-8138.16528"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.16528","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2022,7,27]]},"assertion":[{"value":"2022-05-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}